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Reviews in Endocrine and Metabolic Disorders

Published in:

01-03-2008

Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune–Albright syndrome, familial acromegaly and genetic defects in sporadic tumors

Authors: Anelia Horvath, Constantine A. Stratakis

Published in: Reviews in Endocrine and Metabolic Disorders | Issue 1/2008

Abstract

Pituitary tumors are among the most common neoplasms in man; they account for approximately 15% of all primary intracranial lesions (Jagannathan et al., Neurosurg Focus, 19:E4, 2005). Although almost never malignant and rarely clinically expressed, pituitary tumors may cause significant morbidity in affected patients. First, given the critical location of the gland, large tumors may lead to mass effects, and, second, proliferation of hormone-secreting pituitary cells leads to endocrine syndromes. Acromegaly results from oversecretion of growth hormone (GH) by the proliferating somatotrophs. Despite the significant efforts made over the last decade, still little is known about the genetic causes of common pituitary tumors and even less is applied from this knowledge therapeutically. In this review, we present an update on the genetic syndromes associated with pituitary adenomas and discuss the related genetic defects. We next review findings on sporadic, non-genetic, pituitary tumors with an emphasis on pathways and animal models of pituitary disease. In conclusion, we attempt to present an overall, integrative approach to the human molecular genetics of both familiar and sporadic pituitary tumors.

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Title: Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune–Albright syndrome, familial acromegaly and genetic defects in sporadic tumors
Authors: Anelia Horvath
Constantine A. Stratakis
Publication date: 01-03-2008
Publisher: Springer US
Published in: Reviews in Endocrine and Metabolic Disorders / Issue 1/2008
Print ISSN: 1389-9155
Electronic ISSN: 1573-2606
DOI: https://doi.org/10.1007/s11154-007-9066-9

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Other articles of this Issue 1/2008

Radiation therapy in acromegaly

Medical therapy: Options and uses

Medical consequences of acromegaly: What are the effects of biochemical control?

Current diagnosis of acromegaly

Acromegaly: Re-thinking the cancer risk

Surgery for acromegaly: Evolution of the techniques and outcomes

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